A monozygotic twin pair with highly discordant Gaucher phenotypes

We describe monozygotic twin sisters, born to consanguineous Moroccan parents, who are highly discordant for the manifestations of Gaucher disease. Both carry Gaucher genotype N188S/N188S. One has severe visceral involvement, epilepsy, and a cerebellar syndrome. Her twin does not manifest any sympto...

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Bibliografski detalji
Glavni autori: Biegstraaten, M., van Schaik, I.N., Aerts, J.M.F.G., Langeveld, M., Mannens, M.M.A.M., Bour, L.J., Sidransky, E., Tayebi, N., Fitzgibbon, E., Hollak, C.E.M.
Format: Artigo
Jezik:Inglês
Izdano: 2010
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3352676/
https://ncbi.nlm.nih.gov/pubmed/21056933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2010.10.007
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